Genotyping assay to predict gamma glutamyl hydrolase (GGH) activity
AssigneeSt. Jude Children's Research Hospital
InventorsWilliam Edward Evans, Mary Relling, Qing Cheng
Life of this patent
Estimating the term…
Abstract
Single nucleotide polymorphisms (SNPs) in the gene encoding gamma glutamyl hydrolase (GGH) associated with reduced GGH activity are disclosed. The primary SNP is a change from a cytosine to a thymine at a position corresponding to nucleotide 511 of Genbank sequence accession no. NM 003878. Methods and kits for detecting these SNPs are provided, along with primers useful in detecting these SNP and for amplifying portions of the GGH gene containing these SNPs.
Claims4
A method for predicting the level of gamma glutamyl hydrolase (GGH) activity in a human subject comprising determining the nucleotide present in each GGH allele of the genomic DNA of said subject at a position in exon 5 of human GGH corresponding to position 511 of SEQ ID No. 1, wherein presence of cytosine or thymine nucleotides in the GGH alleles is indicative of the level of GGH activity in the subject.
Dependencies are inferred from the claim text.